{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1661","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1659","results":[{"created":"2020-08-23T18:02:02.159028+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GCH1 were changed from  to Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230","entity_name":"GCH1","entity_type":"gene"},{"created":"2020-08-23T18:01:39.204773+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GCH1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GCH1","entity_type":"gene"},{"created":"2020-08-23T18:01:16.812557+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910, Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GCH1","entity_type":"gene"},{"created":"2020-08-23T17:43:43.953945+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2864","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GABRG2 as ready","entity_name":"GABRG2","entity_type":"gene"},{"created":"2020-08-23T17:43:43.945839+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2864","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gabrg2 has been classified as Green List (High Evidence).","entity_name":"GABRG2","entity_type":"gene"},{"created":"2020-08-23T17:43:40.518894+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2864","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GABRG2 were changed from  to Epileptic encephalopathy, early infantile, 74 618396; Epilepsy, generalized, with febrile seizures plus, type 3 607681","entity_name":"GABRG2","entity_type":"gene"},{"created":"2020-08-23T17:43:11.069997+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2863","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GABRG2 were set to ","entity_name":"GABRG2","entity_type":"gene"},{"created":"2020-08-23T17:42:52.210723+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2862","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GABRG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GABRG2","entity_type":"gene"},{"created":"2020-08-23T17:42:23.062232+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2861","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GABRG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11326274, 11326275, 27864268; Phenotypes: Epileptic encephalopathy, early infantile, 74 618396, Epilepsy, generalized, with febrile seizures plus, type 3 607681; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GABRG2","entity_type":"gene"},{"created":"2020-08-23T17:41:19.766978+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.793","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GABRG2 as ready","entity_name":"GABRG2","entity_type":"gene"},{"created":"2020-08-23T17:41:19.737430+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.793","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gabrg2 has been classified as Green List (High Evidence).","entity_name":"GABRG2","entity_type":"gene"},{"created":"2020-08-23T17:41:16.650862+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.793","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GABRG2 were changed from  to Epileptic encephalopathy, early infantile, 74 618396; Epilepsy, generalized, with febrile seizures plus, type 3 607681","entity_name":"GABRG2","entity_type":"gene"},{"created":"2020-08-23T17:40:53.403451+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.792","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GABRG2 were set to ","entity_name":"GABRG2","entity_type":"gene"},{"created":"2020-08-23T17:40:25.942185+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.791","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GABRG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GABRG2","entity_type":"gene"},{"created":"2020-08-23T17:39:29.910944+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.790","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GABRG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11326274, 11326275, 27864268; Phenotypes: Epileptic encephalopathy, early infantile, 74 618396, Epilepsy, generalized, with febrile seizures plus, type 3 607681; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GABRG2","entity_type":"gene"},{"created":"2020-08-23T17:38:41.862199+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3898","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GABRG2 as ready","entity_name":"GABRG2","entity_type":"gene"},{"created":"2020-08-23T17:38:41.852539+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3898","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gabrg2 has been classified as Green List (High Evidence).","entity_name":"GABRG2","entity_type":"gene"},{"created":"2020-08-23T17:38:35.505101+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3898","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GABRG2 were changed from  to Epileptic encephalopathy, early infantile, 74 618396; Epilepsy, generalized, with febrile seizures plus, type 3 607681","entity_name":"GABRG2","entity_type":"gene"},{"created":"2020-08-23T17:38:19.596531+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3897","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GABRG2 were set to ","entity_name":"GABRG2","entity_type":"gene"},{"created":"2020-08-23T17:38:04.017091+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3896","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GABRG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GABRG2","entity_type":"gene"},{"created":"2020-08-23T17:37:46.522747+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3895","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GABRG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11326274, 11326275, 27864268; Phenotypes: Epileptic encephalopathy, early infantile, 74 618396, Epilepsy, generalized, with febrile seizures plus, type 3 607681; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GABRG2","entity_type":"gene"},{"created":"2020-08-23T17:36:55.907393+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GABRG2 as ready","entity_name":"GABRG2","entity_type":"gene"},{"created":"2020-08-23T17:36:55.898977+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gabrg2 has been classified as Green List (High Evidence).","entity_name":"GABRG2","entity_type":"gene"},{"created":"2020-08-23T17:36:53.729957+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GABRG2 were changed from  to Epileptic encephalopathy, early infantile, 74 618396; Epilepsy, generalized, with febrile seizures plus, type 3 607681","entity_name":"GABRG2","entity_type":"gene"},{"created":"2020-08-23T17:36:29.833350+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GABRG2 were set to ","entity_name":"GABRG2","entity_type":"gene"},{"created":"2020-08-23T17:36:08.841781+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GABRG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GABRG2","entity_type":"gene"},{"created":"2020-08-23T17:35:41.403259+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GABRG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11326274, 11326275, 27864268; Phenotypes: Epileptic encephalopathy, early infantile, 74 618396, Epilepsy, generalized, with febrile seizures plus, type 3 607681; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GABRG2","entity_type":"gene"},{"created":"2020-08-23T17:33:04.032572+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2861","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GABRB3 as ready","entity_name":"GABRB3","entity_type":"gene"},{"created":"2020-08-23T17:33:04.016811+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2861","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gabrb3 has been classified as Green List (High Evidence).","entity_name":"GABRB3","entity_type":"gene"},{"created":"2020-08-23T17:32:59.097547+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2861","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GABRB3 were changed from  to Epileptic encephalopathy, early infantile, 43, MIM# 617113","entity_name":"GABRB3","entity_type":"gene"},{"created":"2020-08-23T17:32:35.595322+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2860","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GABRB3 were set to ","entity_name":"GABRB3","entity_type":"gene"},{"created":"2020-08-23T17:32:16.432553+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2859","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GABRB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GABRB3","entity_type":"gene"},{"created":"2020-08-23T17:31:46.874785+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2858","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GABRB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23934111, 27476654; Phenotypes: Epileptic encephalopathy, early infantile, 43, MIM# 617113; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GABRB3","entity_type":"gene"},{"created":"2020-08-23T17:31:11.501080+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.790","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GABRB3 as ready","entity_name":"GABRB3","entity_type":"gene"},{"created":"2020-08-23T17:31:11.492887+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.790","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gabrb3 has been classified as Green List (High Evidence).","entity_name":"GABRB3","entity_type":"gene"},{"created":"2020-08-23T17:31:08.449924+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.790","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GABRB3 were changed from  to Epileptic encephalopathy, early infantile, 43, MIM# 617113","entity_name":"GABRB3","entity_type":"gene"},{"created":"2020-08-23T17:30:51.779366+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.789","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GABRB3 were set to ","entity_name":"GABRB3","entity_type":"gene"},{"created":"2020-08-23T17:30:26.949443+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.788","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GABRB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GABRB3","entity_type":"gene"},{"created":"2020-08-23T17:29:58.990208+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.787","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GABRB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23934111, 27476654; Phenotypes: Epileptic encephalopathy, early infantile, 43, MIM# 617113; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GABRB3","entity_type":"gene"},{"created":"2020-08-23T17:29:20.932597+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3895","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GABRB3 as ready","entity_name":"GABRB3","entity_type":"gene"},{"created":"2020-08-23T17:29:20.922591+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3895","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gabrb3 has been classified as Green List (High Evidence).","entity_name":"GABRB3","entity_type":"gene"},{"created":"2020-08-23T17:29:11.979535+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3895","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GABRB3 were changed from  to Epileptic encephalopathy, early infantile, 43, MIM# 617113","entity_name":"GABRB3","entity_type":"gene"},{"created":"2020-08-23T17:28:51.314911+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3894","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GABRB3 were set to ","entity_name":"GABRB3","entity_type":"gene"},{"created":"2020-08-23T17:28:34.976763+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3893","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GABRB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GABRB3","entity_type":"gene"},{"created":"2020-08-23T17:28:18.491978+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3892","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GABRB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23934111, 27476654; Phenotypes: Epileptic encephalopathy, early infantile, 43, MIM# 617113; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GABRB3","entity_type":"gene"},{"created":"2020-08-23T17:27:44.872169+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: GABA receptor. Multiple unrelated families reported.; to: GABA receptor. Multiple unrelated families reported. Onset of multiple seizures types within the first year of life, and variable intellectual disability.","entity_name":"GABRB3","entity_type":"gene"},{"created":"2020-08-23T17:26:27.384531+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GABRB3 as ready","entity_name":"GABRB3","entity_type":"gene"},{"created":"2020-08-23T17:26:27.376315+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gabrb3 has been classified as Green List (High Evidence).","entity_name":"GABRB3","entity_type":"gene"},{"created":"2020-08-23T17:26:24.999760+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GABRB3 were changed from  to Epileptic encephalopathy, early infantile, 43, MIM# 617113","entity_name":"GABRB3","entity_type":"gene"},{"created":"2020-08-23T17:26:08.775716+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GABRB3 were set to ","entity_name":"GABRB3","entity_type":"gene"},{"created":"2020-08-23T17:25:44.001725+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GABRB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GABRB3","entity_type":"gene"},{"created":"2020-08-23T17:25:17.808070+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GABRB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23934111, 27476654; Phenotypes: Epileptic encephalopathy, early infantile, 43, MIM# 617113; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GABRB3","entity_type":"gene"},{"created":"2020-08-23T17:23:24.524787+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GABRA1 as ready","entity_name":"GABRA1","entity_type":"gene"},{"created":"2020-08-23T17:23:24.513788+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gabra1 has been classified as Green List (High Evidence).","entity_name":"GABRA1","entity_type":"gene"},{"created":"2020-08-23T17:23:14.983747+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GABRA1 were changed from  to Epileptic encephalopathy, early infantile, 19, MIM# 615744","entity_name":"GABRA1","entity_type":"gene"},{"created":"2020-08-23T17:20:29.615076+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GABRA1 were set to ","entity_name":"GABRA1","entity_type":"gene"},{"created":"2020-08-23T17:19:48.033763+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GABRA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GABRA1","entity_type":"gene"},{"created":"2020-08-23T17:19:20.559140+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GABRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24623842; Phenotypes: Epileptic encephalopathy, early infantile, 19, MIM# 615744; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GABRA1","entity_type":"gene"},{"created":"2020-08-23T17:16:05.166109+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.136","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FOLR1 as ready","entity_name":"FOLR1","entity_type":"gene"},{"created":"2020-08-23T17:16:05.154882+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.136","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: folr1 has been classified as Green List (High Evidence).","entity_name":"FOLR1","entity_type":"gene"},{"created":"2020-08-23T17:16:01.639644+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.136","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FOLR1 as Green List (high evidence)","entity_name":"FOLR1","entity_type":"gene"},{"created":"2020-08-23T17:16:01.631528+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.136","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: folr1 has been classified as Green List (High Evidence).","entity_name":"FOLR1","entity_type":"gene"},{"created":"2020-08-23T17:15:39.359659+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.135","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FOLR1 was added\ngene: FOLR1 was added to Regression. Sources: Expert list\nMode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FOLR1 were set to 19732866; 30420205; 27743887\nPhenotypes for gene: FOLR1 were set to Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068\nReview for gene: FOLR1 was set to GREEN\nAdded comment: Onset is apparent in late infancy with severe developmental regression, movement disturbances, epilepsy, and leukodystrophy. Recognition and diagnosis of this disorder is critical because folinic acid therapy can reverse the clinical symptoms and improve brain abnormalities and function. \nSources: Expert list","entity_name":"FOLR1","entity_type":"gene"},{"created":"2020-08-23T17:14:02.480253+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2858","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FOLR1 as ready","entity_name":"FOLR1","entity_type":"gene"},{"created":"2020-08-23T17:14:02.470194+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2858","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: folr1 has been classified as Green List (High Evidence).","entity_name":"FOLR1","entity_type":"gene"},{"created":"2020-08-23T17:13:58.400618+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2858","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FOLR1 were changed from  to Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068","entity_name":"FOLR1","entity_type":"gene"},{"created":"2020-08-23T17:13:35.073035+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2857","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FOLR1 were set to ","entity_name":"FOLR1","entity_type":"gene"},{"created":"2020-08-23T17:13:11.733591+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2856","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FOLR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FOLR1","entity_type":"gene"},{"created":"2020-08-23T17:12:44.333516+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2855","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FOLR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19732866, 30420205, 27743887; Phenotypes: Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FOLR1","entity_type":"gene"},{"created":"2020-08-23T17:12:01.234286+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.787","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FOLR1 as ready","entity_name":"FOLR1","entity_type":"gene"},{"created":"2020-08-23T17:12:01.225391+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.787","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: folr1 has been classified as Green List (High Evidence).","entity_name":"FOLR1","entity_type":"gene"},{"created":"2020-08-23T17:11:58.411967+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.787","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FOLR1 were changed from  to Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068","entity_name":"FOLR1","entity_type":"gene"},{"created":"2020-08-23T17:11:41.636734+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.786","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FOLR1 were set to ","entity_name":"FOLR1","entity_type":"gene"},{"created":"2020-08-23T17:11:14.625709+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.785","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FOLR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FOLR1","entity_type":"gene"},{"created":"2020-08-23T17:10:50.109411+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.784","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FOLR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19732866, 30420205, 27743887; Phenotypes: Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FOLR1","entity_type":"gene"},{"created":"2020-08-23T17:10:07.875981+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3892","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FOLR1 as ready","entity_name":"FOLR1","entity_type":"gene"},{"created":"2020-08-23T17:10:07.867720+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3892","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: folr1 has been classified as Green List (High Evidence).","entity_name":"FOLR1","entity_type":"gene"},{"created":"2020-08-23T17:10:01.514352+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3892","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FOLR1 were changed from  to Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068","entity_name":"FOLR1","entity_type":"gene"},{"created":"2020-08-23T17:09:36.125406+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3891","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FOLR1 were set to ","entity_name":"FOLR1","entity_type":"gene"},{"created":"2020-08-23T17:09:19.471912+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3890","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FOLR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FOLR1","entity_type":"gene"},{"created":"2020-08-23T17:09:01.307688+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3889","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FOLR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19732866, 30420205, 27743887; Phenotypes: Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FOLR1","entity_type":"gene"},{"created":"2020-08-23T17:08:00.173772+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FOLR1 as ready","entity_name":"FOLR1","entity_type":"gene"},{"created":"2020-08-23T17:08:00.165561+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: folr1 has been classified as Green List (High Evidence).","entity_name":"FOLR1","entity_type":"gene"},{"created":"2020-08-23T17:07:55.714930+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FOLR1 as Green List (high evidence)","entity_name":"FOLR1","entity_type":"gene"},{"created":"2020-08-23T17:07:55.704736+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: folr1 has been classified as Green List (High Evidence).","entity_name":"FOLR1","entity_type":"gene"},{"created":"2020-08-23T17:07:30.415684+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Folate is a neurotransmitter precursor. Treatable condition. \nSources: Expert list; to: Folate is a neurotransmitter precursor. Onset is apparent in late infancy with severe developmental regression, movement disturbances, epilepsy, and leukodystrophy. Recognition and diagnosis of this disorder is critical because folinic acid therapy can reverse the clinical symptoms and improve brain abnormalities and function.\r\nSources: Expert list","entity_name":"FOLR1","entity_type":"gene"},{"created":"2020-08-23T17:06:52.216356+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FOLR1 was added\ngene: FOLR1 was added to Neurotransmitter Defects. Sources: Expert list\nMode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FOLR1 were set to 19732866; 30420205; 27743887\nPhenotypes for gene: FOLR1 were set to Neurodegeneration due to cerebral folate transport deficiency, MIM#\t613068\nReview for gene: FOLR1 was set to GREEN\nAdded comment: Folate is a neurotransmitter precursor. Treatable condition. \nSources: Expert list","entity_name":"FOLR1","entity_type":"gene"},{"created":"2020-08-23T16:27:40.317491+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNAJC12 as ready","entity_name":"DNAJC12","entity_type":"gene"},{"created":"2020-08-23T16:27:40.309497+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnajc12 has been classified as Green List (High Evidence).","entity_name":"DNAJC12","entity_type":"gene"},{"created":"2020-08-23T16:27:36.981842+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DNAJC12 as Green List (high evidence)","entity_name":"DNAJC12","entity_type":"gene"},{"created":"2020-08-23T16:27:36.972139+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnajc12 has been classified as Green List (High Evidence).","entity_name":"DNAJC12","entity_type":"gene"},{"created":"2020-08-23T16:27:11.137734+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DNAJC12 was added\ngene: DNAJC12 was added to Neurotransmitter Defects. Sources: Expert list\nMode of inheritance for gene: DNAJC12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAJC12 were set to 28132689; 30139987; 28892570\nPhenotypes for gene: DNAJC12 were set to Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#\t617384\nReview for gene: DNAJC12 was set to GREEN\nAdded comment: Over 10 families reported with non-BH4-deficient hyperphenylalaninemia (HPANBH4), an autosomal recessive disorder characterised by increased serum phenylalanine (HPA) usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities, such as dystonia, and variably impaired intellectual development. Laboratory analysis shows dopamine and serotonin deficiencies in the CSF, and normal tetrahydrobiopterin (BH4) metabolism. Treatment with BH4 and neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy. Can present with  juvenile- or adult-onset dopa-responsive nonprogressive parkinsonism. \nSources: Expert list","entity_name":"DNAJC12","entity_type":"gene"},{"created":"2020-08-23T16:22:30.357203+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DHFR as ready","entity_name":"DHFR","entity_type":"gene"},{"created":"2020-08-23T16:22:30.347043+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dhfr has been classified as Green List (High Evidence).","entity_name":"DHFR","entity_type":"gene"},{"created":"2020-08-23T16:22:22.723977+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DHFR as Green List (high evidence)","entity_name":"DHFR","entity_type":"gene"},{"created":"2020-08-23T16:22:22.716253+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dhfr has been classified as Green List (High Evidence).","entity_name":"DHFR","entity_type":"gene"},{"created":"2020-08-23T16:21:51.094908+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DHFR was added\ngene: DHFR was added to Neurotransmitter Defects. Sources: Expert list\nMode of inheritance for gene: DHFR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DHFR were set to 21310276; 21310277\nPhenotypes for gene: DHFR were set to Megaloblastic anemia due to dihydrofolate reductase deficiency, MIM#\t613839\nReview for gene: DHFR was set to GREEN\nAdded comment: Dihydrofolate reductase deficiency is an autosomal recessive metabolic disorder characterized by the haematologic findings of megaloblastic anaemia and variable neurologic symptoms, ranging from severe developmental delay and generalised seizures in infancy to childhood absence epilepsy with learning difficulties to lack of symptoms. CSF shows markedly decreased 5-methyltetrahydrofolate (5-MTHF) and low tetrahydrobiopterin (BH4), the latter a cofactor required for the synthesis of dopamine and serotonin. \nSources: Expert list","entity_name":"DHFR","entity_type":"gene"},{"created":"2020-08-23T16:14:45.505657+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DDC as ready","entity_name":"DDC","entity_type":"gene"},{"created":"2020-08-23T16:14:45.492451+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ddc has been classified as Green List (High Evidence).","entity_name":"DDC","entity_type":"gene"},{"created":"2020-08-23T16:14:42.322361+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DDC were changed from  to Aromatic L-amino acid decarboxylase deficiency, MIM# 608643","entity_name":"DDC","entity_type":"gene"}]}